Musculoskeletal Anomalies Flashcards
Thenatophoric Dysplasia
MC lethal
Extreme micromelia: short bowed limbs Long bone narrowing Narrow thorax Protruding abdomen Short ribs Hypomineralization
Champagne cork appearance Cloverleaf skull (Type 2)
Narrowing thorax suggests
A lethal dysplasia
Achondroplasia
MC non lethal
AMA
Dwarf
Rhizomelia (short prox limb) Limb bowing Short fingers Macrocephaly Frontal bossing Hydrocephaly Saddle nose Head/FL discrepancy Biometry may be normal before 22 wks
*homozygous form is lethal
Achondrogenesis / Anosteogenesis
2nd MC lethal
Type 1 (Parenti-Faccaro): micromelia, narrow short thorax, short ribs, polydactyly,
Type 2 (Langer-Saldino): MC, more severe, extreme micromelia, short thorax, protruding abd, dec ossification of spine, fractures, Hypomineralization, hydrops, poly, anasarca
Short Rib-Polydactyly Syndrome
Fatal
Polydactyly
❤️ anomalies
GU anomalies
Cleft lip
Micromelia, narrow thorax, short ribs
Jeune Syndrome / Asphyxiating Thoracic Dysplasia
Range of severity. Most severe is lethal
Funnel shape thorax
Mesomelia, Short extremities. Rhizomelia (short prox limb). Short ribs. Renal dysplasia. Polydactyly.
Chondroectodermal Dysplasia / Ellis-Van Crevald Syndrome
Inc in Amish
Small thorax, short limbs, polydactyly
ASD
Osteogenesis Imperfecta
Inherited collagen disorder
4 types
Hypomineralization
Type 1: MC, mild, fractures after birth, 35% deaf
Type 2: most severe, lethal. Short long bones, short ribs, multiple fractures, poor ossification. Hypomineralized skull, see hemispheres clearly. No shadow. Compressible head with transducer pressure
Type 3: severe. Fractures, long bone shortening, poor prognosis.
Type 4: mildest, occasional fractures. Short.
Camptomelic Dysplasia
Lethal
*bowed short long bones Small fibula Hydronephrosis Hypertelorism Narrow thorax Hydrocephaly Cleft palate Micrognathia Polyhydramnios
Congenital Hypophosphatasia
Diffuse severe Hypomineralization, death after birth
Alkaline phosphatase deficiency
Polyhydramnios, compressible calvarium, short bowed limbs, fractures, short beaded ribs
Polydactyly
Trisomies 13, 18, 21, skeletal Dysplasia
Radial Ray Defect / Radial Aplasia
Clubbed hand
Tri 13, 18, vacterl, holt oram, tar syndrome, oligohydramnios
Talipes/Clubfoot
Oligohydramnios, caudal regression, lead & rat poison
Arthrogryposis Multiplex
Abnl contracture of limbs
Lobster Claw / Ectrodactyly
Cleft hand
Holy Oram Syndrome
Absent thumbs
CHD/ASD, phocomelia
TAR syndrome / Thrombocytopenia Absent Radius Syndrome
Blood disorder dec platelets
Absent radius
Turned back clubbed hand appearance.
VACTERL
Need 3 to make assoc
Vertebral anomalies Anal atresia Cardiac anomalies Tracheo Esophageal Fistula Renal Anomalies Limb Dysplasia
Sirenomelia / Mermaid Syndrome
Caudal regression syndrome
Fused lower limbs
Oligo, renal agenesis, MCDK, SUA
Roberts Syndrome / Pseudothalidamide Syndrome
Caused by thalidomide drug used 1960 for nausea in pregnancy
Phocomelia
Cleft lip/palate
Microcephaly
IUGR
Diastrophic Dysplasia
Talipes *Hitchhikers thumb Micromelia Scoliosis Micrognathia Cleft palate
Primordial Dwarfism
Proportionate dwarf. Squeaky voice
Pseudo trisomy 18 syndrome / Pena Shokeir Syndrome
Fixed extremities with clenched hands. Severe edema, thick skin
Acheiria
Absent hand(s)
